Case report: A novel de novo IGF2 missense variant in a Finnish patient with Silver-Russell syndrome

Silver-Russell syndrome (SRS, OMIM 180860) is a rare imprinting disorder characterized by intrauterine and postnatal growth restriction, feeding difficulties in early childhood, characteristic facial features, and body asymmetry. The molecular cause most commonly relates to hypomethylation of the im...

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Hlavní autoři:	Petra Loid, Marita Lipsanen-Nyman, Sirpa Ala-Mello, Katariina Hannula-Jouppi, Juha Kere, Outi Mäkitie, Mari Muurinen
Médium:	Artigo
Jazyk:	Inglês
Vydáno:	Frontiers Media S.A. 2022-10-01
Edice:	Frontiers in Pediatrics
Témata:	IGF2 short stature Silver-Russell intrauterine growth restriction exome sequencing
On-line přístup:	https://www.frontiersin.org/articles/10.3389/fped.2022.969881/full
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